MICB[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2392961	NM_005931.5(MICB):c.11G>A (p.Gly4Asp)	MICB (G4D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126290	NM_005931.5(MICB):c.65C>A (p.Ala22Asp)	MICB (A22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726697	NM_005931.5(MICB):c.66C>T (p.Ala22=)	MICB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2255586	NM_005931.5(MICB):c.107C>T (p.Ser36Phe)	MICB (S36F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126285	NM_005931.5(MICB):c.139G>A (p.Ala47Thr)	MICB (A15T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126286	NM_005931.5(MICB):c.173G>A (p.Arg58His)	MICB (R58H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223651	NM_005931.5(MICB):c.191G>A (p.Arg64His)	MICB (R32H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126287	NM_005931.5(MICB):c.250A>G (p.Thr84Ala)	MICB (T52A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406351	NM_005931.5(MICB):c.259G>A (p.Glu87Lys)	MICB (E55K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337133	NM_005931.5(MICB):c.277G>A (p.Gly93Arg)	MICB (G61R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126288	NM_005931.5(MICB):c.326G>A (p.Gly109Asp)	MICB (G77D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460005	NM_005931.5(MICB):c.391C>T (p.Arg131Trp)	MICB (R131W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294796	NM_005931.5(MICB):c.392G>A (p.Arg131Gln)	MICB (R131Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380728	NM_005931.5(MICB):c.449C>T (p.Ser150Leu)	MICB (S118L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374911	NM_005931.5(MICB):c.493G>A (p.Val165Ile)	MICB (V133I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549361	NM_005931.5(MICB):c.536A>G (p.His179Arg)	MICB (H179R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462309	NM_005931.5(MICB):c.542G>A (p.Arg181His)	MICB (R138H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126289	NM_005931.5(MICB):c.595G>T (p.Val199Leu)	MICB (V167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408811	NM_005931.5(MICB):c.667G>A (p.Val223Met)	MICB (V223M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3126291	NM_005931.5(MICB):c.718C>T (p.Arg240Cys)	MICB (R208C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271441	NM_005931.5(MICB):c.791A>G (p.Tyr264Cys)	MICB (Y232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126292	NM_005931.5(MICB):c.813G>C (p.Arg271Ser)	MICB (R228S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530874	NM_005931.5(MICB):c.826G>A (p.Glu276Lys)	MICB (E244K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619053	NM_005931.5(MICB):c.912G>C (p.Gln304His)	MICB (Q261H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209181	NM_005931.5(MICB):c.919C>T (p.Arg307Trp)	MICB (R264W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341684	NM_005931.5(MICB):c.1061T>C (p.Val354Ala)	MICB (V354A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713467	NM_005931.5(MICB):c.1134T>C (p.Gly378=)	MICB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36